ClinVar for MedGen (Select 45036) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 880357	NM_020975.6(RET):c.*1516C>T	RET	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 1 +3 more	GUncertain significance
Select item 880217	NM_020975.6(RET):c.*180G>A	RET	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma +3 more	GUncertain significance
Select item 879260	NM_020975.6(RET):c.*1900C>A	RET	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma +3 more	GUncertain significance
Select item 879101	NM_020975.6(RET):c.*1112A>G	RET	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma +3 more	GUncertain significance
Select item 879000	NM_020975.6(RET):c.*159G>T	RET	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma +3 more	GUncertain significance
Select item 878710	NM_020975.6(RET):c.-51C>T	LOC106736614, RET	Single nucleotide variant (5 prime UTR variant)	Hirschsprung disease, susceptibility to, 1 +3 more	GUncertain significance
Select item 878659	NM_020975.6(RET):c.*1886T>G	RET	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 1 +3 more	GUncertain significance
Select item 878562	NM_020975.6(RET):c.*1430A>G	RET	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 1 +4 more	GConflicting classifications of pathogenicity
Select item 878517	NM_020975.6(RET):c.*1046G>C	RET	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 1 +4 more	GConflicting classifications of pathogenicity
Select item 878467	NM_020975.6(RET):c.*500C>G	RET	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 1 +3 more	GUncertain significance
Select item 878084	NM_020975.6(RET):c.1326G>T (p.Leu442=)	RET	Single nucleotide variant (synonymous variant +1 more)	Renal hypodysplasia/aplasia 1 +3 more	GUncertain significance
Select item 877981	NM_020975.6(RET):c.867+4C>G	RET	Single nucleotide variant (intron variant)	Renal hypodysplasia/aplasia 1 +3 more	GUncertain significance
Select item 877685	NM_020975.6(RET):c.-160G>T	LOC106736614, RET	Single nucleotide variant (5 prime UTR variant)	Renal hypodysplasia/aplasia 1 +4 more	GBenign/Likely benign
Select item 877684	NM_020975.6(RET):c.-173A>G	LOC106736614, RET	Single nucleotide variant (5 prime UTR variant)	Renal hypodysplasia/aplasia 1 +3 more	GUncertain significance
Select item 877645	NM_020975.6(RET):c.*1812C>A	RET	Single nucleotide variant (3 prime UTR variant)	Renal hypodysplasia/aplasia 1 +3 more	GConflicting classifications of pathogenicity
Select item 877587	NM_020975.6(RET):c.*1533A>G	RET	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 1 +3 more	GUncertain significance
Select item 877535	NM_020975.6(RET):c.*1326T>C	RET	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 1 +3 more	GConflicting classifications of pathogenicity
Select item 877490	NM_020975.6(RET):c.*883G>A	RET	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 1 +3 more	GUncertain significance
Select item 877445	NM_020975.6(RET):c.*492G>C	RET	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 1 +3 more	GBenign/Likely benign
Select item 877386	NM_020975.6(RET):c.*29C>A	RET	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 1 +4 more	GConflicting classifications of pathogenicity
Select item 877158	NM_020975.6(RET):c.1880-5C>A	RET	Single nucleotide variant (intron variant)	Pheochromocytoma +4 more	GUncertain significance
Select item 877094	NM_020975.6(RET):c.1601T>C (p.Leu534Pro)	RET (L534P +12 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +5 more	GUncertain significance
Select item 849703	NM_020975.6(RET):c.1062T>C (p.Tyr354=)	RET	Single nucleotide variant (synonymous variant +1 more)	Multiple endocrine neoplasia, type 2 +4 more	GUncertain significance
Select item 580338	NM_020975.6(RET):c.2129A>G (p.Lys710Arg)	RET (K710R +17 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +9 more	GConflicting classifications of pathogenicity
Select item 568416	NM_020975.6(RET):c.484C>T (p.Pro162Ser)	RET (P162S +1 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia +4 more	GUncertain significance
Select item 548897	NM_020975.6(RET):c.1649-4G>A	RET	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia, type 2 +7 more	GConflicting classifications of pathogenicity
Select item 543741	NM_020975.6(RET):c.3052C>T (p.Leu1018Phe)	RET (L1018F +17 more)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 1 +8 more	GConflicting classifications of pathogenicity
Select item 527268	NM_001370259.2(MEN1):c.1049+1G>A	MEN1	Single nucleotide variant (non-coding transcript variant +1 more)	Multiple endocrine neoplasia, type 1 +1 more	GPathogenic
Select item 486304	NM_020975.6(RET):c.2403C>T (p.Leu801=)	RET	Single nucleotide variant (synonymous variant)	Hirschsprung disease, susceptibility to, 1 +5 more	GConflicting classifications of pathogenicity
Select item 477383	NM_020975.6(RET):c.718G>C (p.Val240Leu)	RET (V240L +2 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +6 more	GConflicting classifications of pathogenicity
Select item 477379	NM_020975.6(RET):c.603C>T (p.Ser201=)	RET	Single nucleotide variant (synonymous variant +1 more)	Pheochromocytoma +5 more	GConflicting classifications of pathogenicity
Select item 477378	NM_020975.6(RET):c.566G>A (p.Arg189His)	RET (R189H +1 more)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 1 +5 more	GConflicting classifications of pathogenicity
Select item 477377	NM_020975.6(RET):c.487C>A (p.Arg163=)	RET	Single nucleotide variant (synonymous variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 477358	NM_020975.6(RET):c.2939+7G>A	RET	Single nucleotide variant (intron variant)	Pheochromocytoma +5 more	GConflicting classifications of pathogenicity
Select item 477349	NM_020975.6(RET):c.2418C>T (p.Tyr806=)	RET	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 477327	NM_020975.6(RET):c.1798C>T (p.Arg600Trp)	RET (R600W +12 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +8 more	GConflicting classifications of pathogenicity
Select item 477310	NM_020975.6(RET):c.1264-8C>T	RET	Single nucleotide variant (intron variant)	Pheochromocytoma +4 more	GConflicting classifications of pathogenicity
Select item 413457	NM_020975.6(RET):c.1353G>T (p.Thr451=)	RET	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 405554	NM_020975.6(RET):c.628G>A (p.Glu210Lys)	RET (E210K +2 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia +7 more	GUncertain significance
Select item 405541	NM_020975.6(RET):c.235C>T (p.Arg79Trp)	RET (R79W)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia +6 more	GConflicting classifications of pathogenicity
Select item 405539	NM_020975.6(RET):c.1165C>T (p.Leu389Phe)	RET (L389F +6 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia +5 more	GConflicting classifications of pathogenicity
Select item 372091	NM_020975.6(RET):c.1879+13C>T	RET	Single nucleotide variant (intron variant)	Pheochromocytoma +6 more	GConflicting classifications of pathogenicity
Select item 372082	NM_020975.6(RET):c.2393-14C>T	RET	Single nucleotide variant (intron variant)	Pheochromocytoma +7 more	GConflicting classifications of pathogenicity
Select item 368991	NM_004064.4(CDKN1B):c.*1357T>C	CDKN1B	Single nucleotide variant	Multiple endocrine neoplasia	GLikely benign
Select item 368899	NM_020975.5(RET):c.-196C>A	LOC106736614, RET	Single nucleotide variant	Multiple endocrine neoplasia +4 more	GBenign/Likely benign
Select item 368898	NC_000010.11:g.43077059A>G	LOC106736614, RET	Single nucleotide variant	Multiple endocrine neoplasia +4 more	GBenign
Select item 307682	NM_004064.5(CDKN1B):c.554_558del	CDKN1B	Deletion (3 prime UTR variant)	Multiple endocrine neoplasia	GUncertain significance
Select item 307677	NM_004064.5(CDKN1B):c.*327C>T	CDKN1B	Single nucleotide variant (3 prime UTR variant)	Multiple endocrine neoplasia	GLikely benign
Select item 307667	NM_004064.5(CDKN1B):c.475+10C>T	CDKN1B	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia type 4 +2 more	GBenign/Likely benign
Select item 307653	NM_004064.5(CDKN1B):c.-271del	CDKN1B, LOC130007458	Deletion (5 prime UTR variant)	Multiple endocrine neoplasia	GUncertain significance
Select item 305320	NM_130799.2(MEN1):c.-106T>C	MEN1	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia +1 more	GUncertain significance
Select item 305316	NM_001370259.2(MEN1):c.-23-14G>C	MEN1	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia +1 more	GUncertain significance
Select item 305306	NM_001370259.2(MEN1):c.*300CTC[2]	MEN1	Microsatellite (3 prime UTR variant)	Multiple endocrine neoplasia +1 more	GLikely benign
Select item 305301	NM_001370259.2(MEN1):c.*527G>T	MEN1	Single nucleotide variant (3 prime UTR variant)	Multiple endocrine neoplasia +1 more	GUncertain significance
Select item 305300	NM_001370259.2(MEN1):c.*529A>G	MEN1	Single nucleotide variant (3 prime UTR variant)	Multiple endocrine neoplasia +1 more	GUncertain significance
Select item 305299	NM_001370259.2(MEN1):c.*533C>T	MEN1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GUncertain significance
Select item 305298	NM_001370259.2(MEN1):c.*557C>A	MEN1	Single nucleotide variant (3 prime UTR variant)	Multiple endocrine neoplasia +1 more	GUncertain significance
Select item 305297	NM_001370259.2(MEN1):c.*560G>T	MEN1	Single nucleotide variant (3 prime UTR variant)	Multiple endocrine neoplasia +1 more	GUncertain significance
Select item 305296	NM_001370259.2(MEN1):c.*570C>A	MEN1	Single nucleotide variant (3 prime UTR variant)	Multiple endocrine neoplasia +1 more	GUncertain significance
Select item 299945	NM_020975.6(RET):c.*1870C>T	RET	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 1 +3 more	GBenign/Likely benign
Select item 299944	NM_020975.6(RET):c.*1797T>G	RET	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 1 +3 more	GUncertain significance
Select item 299943	NM_020975.6(RET):c.*1797T>C	RET	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma +3 more	GUncertain significance
Select item 299942	NM_020975.6(RET):c.*1742G>A	RET	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma +3 more	GLikely benign
Select item 299941	NM_020975.6(RET):c.*1659T>C	RET	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 1 +3 more	GUncertain significance
Select item 299940	NM_020975.6(RET):c.*1646T>G	RET	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 1 +3 more	GUncertain significance
Select item 299939	NM_020975.6(RET):c.*1644G>C	RET	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 1 +3 more	GConflicting classifications of pathogenicity
Select item 299938	NM_020975.6(RET):c.*1599G>A	RET	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 1 +3 more	GBenign/Likely benign
Select item 299937	NM_020975.6(RET):c.*1591G>A	RET	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 1 +4 more	GBenign/Likely benign
Select item 299936	NM_020975.6(RET):c.*1583G>A	RET	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 1 +3 more	GBenign/Likely benign
Select item 299935	NM_020975.6(RET):c.*1558A>C	RET	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma +3 more	GBenign/Likely benign
Select item 299934	NM_020975.6(RET):c.*1506G>A	RET	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma +4 more	GBenign
Select item 299933	NM_020975.6(RET):c.*1489G>A	RET	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma +3 more	GUncertain significance
Select item 299932	NM_020975.6(RET):c.*1348G>A	RET	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma +3 more	GConflicting classifications of pathogenicity
Select item 299931	NM_020975.6(RET):c.*1345G>T	RET	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma +3 more	GUncertain significance
Select item 299930	NM_020975.6(RET):c.*1337A>T	RET	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma +3 more	GUncertain significance
Select item 299929	NM_020975.6(RET):c.*1278del	RET	Deletion (3 prime UTR variant)	Pheochromocytoma +3 more	GUncertain significance
Select item 299928	NM_020975.6(RET):c.*1233T>C	RET	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma +3 more	GUncertain significance
Select item 299927	NM_020975.6(RET):c.*1212C>T	RET	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma +3 more	GUncertain significance
Select item 299926	NM_020975.6(RET):c.*1130A>G	RET	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma +4 more	GConflicting classifications of pathogenicity
Select item 299925	NM_020975.6(RET):c.*1116T>C	RET	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma +4 more	GBenign
Select item 299924	NM_020975.6(RET):c.*1109T>C	RET	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma +3 more	GUncertain significance
Select item 299923	NM_020975.6(RET):c.*1103C>T	RET	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma +3 more	GUncertain significance
Select item 299922	NM_020975.6(RET):c.*1020G>T	RET	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma +3 more	GUncertain significance
Select item 299921	NM_020975.6(RET):c.*935C>A	RET	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma +3 more	GUncertain significance
Select item 299920	NM_020975.6(RET):c.*824G>T	RET	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma +3 more	GUncertain significance
Select item 299919	NM_020975.6(RET):c.*763C>T	RET	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma +3 more	GUncertain significance
Select item 299918	NM_020975.6(RET):c.*749dup	RET	Duplication (3 prime UTR variant)	Pheochromocytoma +3 more	GUncertain significance
Select item 299917	NM_020975.6(RET):c.*600delinsTT	RET	Indel (3 prime UTR variant)	Pheochromocytoma +3 more	GUncertain significance
Select item 299916	NM_020975.6(RET):c.*576G>A	RET	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma +4 more	GBenign/Likely benign
Select item 299915	NM_020975.6(RET):c.*553G>T	RET	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma +3 more	GUncertain significance
Select item 299914	NM_020975.6(RET):c.*538G>T	RET	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma +3 more	GUncertain significance
Select item 299913	NM_020975.6(RET):c.*509A>G	RET	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma +3 more	GUncertain significance
Select item 299912	NM_020975.6(RET):c.*506G>T	RET	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma +3 more	GUncertain significance
Select item 299911	NM_020975.6(RET):c.*499dup	RET	Duplication (3 prime UTR variant)	Multiple endocrine neoplasia +3 more	GLikely benign
Select item 299910	NM_020975.6(RET):c.*453G>T	RET	Single nucleotide variant (3 prime UTR variant)	Multiple endocrine neoplasia +3 more	GUncertain significance
Select item 299909	NM_020975.6(RET):c.*446A>G	RET	Single nucleotide variant (3 prime UTR variant)	Multiple endocrine neoplasia +3 more	GUncertain significance
Select item 299908	NM_020975.6(RET):c.*388G>A	RET	Single nucleotide variant (3 prime UTR variant)	Multiple endocrine neoplasia +4 more	GBenign
Select item 299907	NM_020975.6(RET):c.*368G>T	RET	Single nucleotide variant (3 prime UTR variant)	Multiple endocrine neoplasia +3 more	GUncertain significance
Select item 299906	NM_020975.6(RET):c.*358G>T	RET	Single nucleotide variant (3 prime UTR variant)	Multiple endocrine neoplasia +3 more	GUncertain significance
Select item 299905	NM_020975.6(RET):c.*330A>G	RET	Single nucleotide variant (3 prime UTR variant)	Multiple endocrine neoplasia +3 more	GBenign/Likely benign

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